Canonical Allele Identifier: CA379787772

Gene: ABCC8

Linked Data

• dbSNP Id: rs780718623
• gnomAD v2: 11-17417407-G-T
• gnomAD v4: 11-17395860-G-T
• MyVariant Identifiers: chr11:g.17417407G>T (hg19) ; chr11:g.17395860G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395860G>T , CM000673.2:g.17395860G>T	GRCh38
NC_000011.9:g.17417407G>T , CM000673.1:g.17417407G>T	GRCh37
NC_000011.8:g.17373983G>T	NCBI36
NG_008867.1:g.86043C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3791C>A
ENST00000528374.2:c.781C>A
ENST00000529967.6:n.2529C>A
ENST00000532220.2:n.3423C>A
ENST00000642611.2:n.5390C>A
ENST00000644057.2:n.633C>A
ENST00000645004.2:n.1689C>A
ENST00000682051.1:n.4352C>A
ENST00000682110.1:n.4405C>A
ENST00000682140.1:c.4056C>A	ENSP00000507829.1:p.His1352Gln
ENST00000682185.1:n.5495C>A
ENST00000682204.1:c.*2328C>A	ENSP00000507094.1:n.*2328C>A
ENST00000682215.1:n.4772C>A
ENST00000682288.1:c.*2621C>A	ENSP00000507506.1:n.*2621C>A
ENST00000682442.1:n.4625C>A
ENST00000682528.1:n.4482C>A
ENST00000682673.1:n.4349C>A
ENST00000682805.1:n.4810C>A
ENST00000682965.1:c.*612C>A	ENSP00000508229.1:n.*612C>A
ENST00000683093.1:n.5489C>A
ENST00000683136.1:c.4073C>A	ENSP00000507768.1:p.Thr1358Lys
ENST00000683153.1:n.4447C>A
ENST00000683365.1:n.4507C>A
ENST00000683377.1:n.4405C>A
ENST00000683456.1:c.*1327C>A	ENSP00000508318.1:n.*1327C>A
ENST00000683522.1:n.4405C>A
ENST00000683562.1:c.*2359C>A	ENSP00000508265.1:n.*2359C>A
ENST00000683693.1:n.5837C>A
ENST00000683725.1:c.4190C>A	ENSP00000507496.1:p.Thr1397Lys
ENST00000684010.1:n.4400C>A
ENST00000684157.1:n.5390C>A
ENST00000684253.1:n.4308C>A
ENST00000684288.1:c.*2362C>A	ENSP00000507143.1:n.*2362C>A
ENST00000684313.1:n.3837C>A
ENST00000684332.1:n.4478C>A
ENST00000684371.1:n.4511C>A
ENST00000684404.1:n.5433C>A
ENST00000684442.1:n.4629C>A
ENST00000684555.1:c.*2402C>A	ENSP00000507705.1:n.*2402C>A
ENST00000684571.1:c.4031C>A	ENSP00000506935.1:p.Thr1344Lys
ENST00000684593.1:c.*3895C>A	ENSP00000507005.1:n.*3895C>A
ENST00000684711.1:c.*2586C>A	ENSP00000506841.1:n.*2586C>A
ENST00000302539.9:c.4193C>A	ENSP00000303960.4:p.Thr1398Lys
ENST00000389817.8:c.4190C>A MANE Select	ENSP00000374467.4:p.Thr1397Lys
ENST00000642271.1:c.4187C>A	ENSP00000493749.1:p.Thr1396Lys
ENST00000642579.1:c.2244C>A
ENST00000642611.1:n.5275C>A
ENST00000642902.1:c.3972C>A
ENST00000643260.1:c.4190C>A	ENSP00000494450.1:p.Thr1397Lys
ENST00000643562.1:c.*2312C>A	ENSP00000496124.1:n.*2312C>A
ENST00000643925.1:c.2830C>A
ENST00000644057.1:n.267C>A
ENST00000644484.1:c.*3576C>A	ENSP00000493558.1:n.*3576C>A
ENST00000644675.1:c.*2362C>A	ENSP00000494567.1:n.*2362C>A
ENST00000644757.1:c.*3202+404C>A	ENSP00000495085.1:n.*3202+404C>A
ENST00000644772.1:c.4256C>A	ENSP00000494321.1:p.Thr1419Lys
ENST00000645004.1:n.1883C>A
ENST00000645076.1:c.3389C>A
ENST00000645417.1:c.1378C>A
ENST00000645744.1:c.*3955C>A	ENSP00000494564.1:n.*3955C>A
ENST00000645760.1:c.4611C>A
ENST00000645884.1:c.*1473C>A	ENSP00000495516.1:n.*1473C>A
ENST00000646003.1:c.*2292C>A	ENSP00000495259.1:n.*2292C>A
ENST00000646207.1:c.*3027C>A	ENSP00000495025.1:n.*3027C>A
ENST00000646276.1:c.*3594C>A	ENSP00000496070.1:n.*3594C>A
ENST00000646592.1:c.3496C>A
ENST00000646902.1:c.4157C>A	ENSP00000494101.1:p.Thr1386Lys
ENST00000646993.1:c.*2732C>A	ENSP00000493720.1:n.*2732C>A
ENST00000647013.1:c.4196C>A	ENSP00000496741.1:n.4196C>A
ENST00000647015.1:c.3941C>A	ENSP00000495389.1:p.Thr1314Lys
ENST00000647086.1:c.*3776C>A	ENSP00000493677.1:n.*3776C>A
ENST00000647158.1:c.*2477C>A	ENSP00000495744.1:n.*2477C>A
ENST00000302539.8:c.4193C>A	ENSP00000303960.4:p.Thr1398Lys
ENST00000389817.7:c.4190C>A	ENSP00000374467.3:p.Thr1397Lys
ENST00000525022.1:n.56C>A
ENST00000526168.5:c.58C>A
ENST00000531642.5:c.26C>A
NM_000352.4:c.4190C>A	NP_000343.2:p.Thr1397Lys
NM_001287174.1:c.4193C>A	NP_001274103.1:p.Thr1398Lys
XM_011520331.1:c.4190C>A	XP_011518633.1:p.Thr1397Lys
XM_011520332.1:c.4193C>A	XP_011518634.1:p.Thr1398Lys
XM_011520333.1:c.2690C>A	XP_011518635.1:p.Thr897Lys
XR_930890.1:n.4256C>A
NM_001351295.1:c.4256C>A	NP_001338224.1:p.Thr1419Lys
NM_001351296.1:c.4190C>A	NP_001338225.1:p.Thr1397Lys
NM_001351297.1:c.4187C>A	NP_001338226.1:p.Thr1396Lys
NR_147094.1:n.4485C>A
XM_017018197.2:c.4259C>A	XP_016873686.1:p.Thr1420Lys
XM_017018199.1:c.4256C>A	XP_016873688.1:p.Thr1419Lys
XM_017018201.2:c.4259C>A	XP_016873690.1:p.Thr1420Lys
XM_017018202.1:c.2756C>A	XP_016873691.1:p.Thr919Lys
XM_017018204.1:c.2147C>A	XP_016873693.1:p.Thr716Lys
XM_024448668.1:c.2558C>A	XP_024304436.1:p.Thr853Lys
XR_001747945.2:n.4331C>A
XR_001747946.2:n.4262C>A
XR_002957189.1:n.5912C>A
NM_000352.6:c.4190C>A MANE Select	NP_000343.2:p.Thr1397Lys
NM_001287174.2:c.4193C>A	NP_001274103.1:p.Thr1398Lys
NM_001351295.2:c.4256C>A	NP_001338224.1:p.Thr1419Lys
NM_001351296.2:c.4190C>A	NP_001338225.1:p.Thr1397Lys
NM_001351297.2:c.4187C>A	NP_001338226.1:p.Thr1396Lys
NR_147094.2:n.4485C>A
NM_001287174.3:c.4193C>A	NP_001274103.1:p.Thr1398Lys